Table 1 Clinical data and neurological findings for 26 heterozygous (NGFB mutation) patients
Case NoAge (years)SexAge at onsetOnset symptomCharcot jointCNMNSI historyMNSI statusCranial nerveMuscleMotor signReflexes legSensationOther diagnosisClinical CTSNerve biopsy
PinprickTouchHeatColdVibration
113MN10NNN+++++++++++N
216FN00NNN+++++++++++OrN
316MN11NNN+++++++++++N
419FN10NNN+++++++++++N
520MN00PtNN+++++++++++N
624MN00NNN+++++++++++N
729FNNN+++++++++
837FN22NNN+++++++++++OrY
940FN20PtNN+++++++++++N
1045FN02NNN+++++++++++YY
1147MN03NNN++++++++++OrY
1250MN21NAQTh↓+++++++++++CpY
1351F20AS?N34NNN++++++++++NY
1451M30AFN01NNN++++++++++Y
1554F20AKN40PtNN+++++++++++N
1655M20AKN21PtNN+++++++++0OrY
1760FN42NNN+++++++++0NY
1863MN22NNN(+)++++++++0Y
1963FN33NNN++++++++++Y
2066FNPNP45PtAHN+++++++++0Y
2169FN02NNN+++++++++0NY
2272FNPNP52.5TiNTh↓+++++++0N
2374M50AKANP15NAHTh↓(+)+++++++0OrYY
2482M70AKNP25NNTh↓++++++++0B12
2584F70AKNP01NAHN+++++++OrY
2690M60AKNP13PuAQ AHN(+)++++++0Y
Young34Mean1.001.00Mean
1.291.30SD
Old71Mean2.182.90Mean
1.661.75SD
All50Mean2.001.79Mean
22.7SD1.531.70SD
  • We found no mutilating symptoms, autoamputations, painless fracture, multiple infections or mental retardation.

  • Charcot joint: A, ankle; F, foot; K, knee; S, spine.

  • Reflexes: –, absent; (+), reduced; +, normal; ++, high.

  • Sensation: 0, absent; +, reduced; ++, normal.

  • A, arthropathy; AH, atrophy hand; AQ, atrophy quadriceps; B12, B12 deficiency; CN, clinical neuropathy; Cp, cerebral palsy; CTS, carpal tunnel syndrome; MNSI, Michigan Neuropathy Screening Instrument; N, normal or no; NP, polyneuropathy; Or, ortostatism; Pt, ptosis; Pu, different pupil size; Th, toe–heel test; Ti, tinnitus; Y, yes.